A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27799



Internal ID15833336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:6250627..6264650hg38UCSC Ensembl
OuterchrY:6250320..6264902hg38UCSC Ensembl
InnerchrY:6118668..6132691hg19UCSC Ensembl
OuterchrY:6118361..6132943hg19UCSC Ensembl
InnerchrY:6178668..6192691hg18UCSC Ensembl
OuterchrY:6178361..6192943hg18UCSC Ensembl
InnerchrY:6162029..6176052hg17UCSC Ensembl
OuterchrY:6161722..6176304hg17UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3814583
hg1914583
hg1814583
hg1714583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10012
Supporting Variants
SamplesNA18504
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv27799
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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